Detalhe da pesquisa
1.
Control of One-Handed Helicity in Polyacetylenes: Impact of an Extremely Small Amount of Chiral Substituents.
J Am Chem Soc
; 145(45): 24862-24876, 2023 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930639
2.
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Clin Genet
; 103(4): 383-391, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645289
3.
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Genomics
; 114(5): 110468, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041635
4.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat
; 42(1): 50-65, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131168
5.
Whole exome sequencing of fetal structural anomalies detected by ultrasonography.
J Hum Genet
; 66(5): 499-507, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144663
6.
Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
J Hum Genet
; 65(9): 811, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32536687
7.
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
J Hum Genet
; 64(5): 487-492, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30765867
8.
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
J Hum Genet
; 64(10): 967-978, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337854
9.
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.
Hum Genome Var
; 8(1): 34, 2021 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404773
10.
Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant.
Brain Dev
; 43(8): 863-866, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34090716
11.
Nonsense variants of STAG2 result in distinct congenital anomalies.
Hum Genome Var
; 7: 26, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33014403
12.
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Nat Commun
; 10(1): 2506, 2019 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175295
13.
An association of Bcl-2 phosphorylation and Bax localization with their functions after hyperthermia and paclitaxel treatment.
Int J Cancer
; 103(1): 53-60, 2003 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12455053